ClinVar Miner

List of variants studied for Wolf-Hirschhorn syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012318.3(LETM1):c.326A>G (p.His109Arg) rs62623389 0.01570
NM_001012614.2(CTBP1):c.486C>T (p.Arg162=) rs1045458 0.01026
NM_001042424.3(NSD2):c.4023C>T (p.Pro1341=) rs149925711 0.00201
NM_001004356.3(FGFRL1):c.541G>A (p.Asp181Asn) rs201262483 0.00041
NM_001042424.3(NSD2):c.*1922dup rs886059331 0.00006
NM_001042424.3(NSD2):c.1902C>T (p.Asp634=) rs746926553 0.00004
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser) rs548852837 0.00001
GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281)
GRCh37/hg19 4p16.3(chr4:1305802-2460571)
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)
NM_001004356.3(FGFRL1):c.842T>G (p.Leu281Arg) rs1716385543
NM_001042424.3(NSD2):c.*1370dup rs886059325
NM_001042424.3(NSD2):c.*2012dup rs766138833
NM_001042424.3(NSD2):c.*339CTC[1] rs375129793
NM_001042424.3(NSD2):c.-29-6901dup rs886059308
NM_001042424.3(NSD2):c.1569dup (p.Lys524fs) rs1560696317
NM_001042424.3(NSD2):c.2675G>A (p.Arg892Lys) rs2108958817
NM_001042424.3(NSD2):c.2826_2827dup (p.Asp943fs)
NM_001042424.3(NSD2):c.2887C>T (p.Gln963Ter) rs1725000714
NM_001042424.3(NSD2):c.3223_3226dup (p.Gly1076fs) rs2108971782
NM_001042424.3(NSD2):c.3271G>A (p.Glu1091Lys) rs2108976523
NM_001042424.3(NSD2):c.708G>A (p.Trp236Ter) rs1560602800
NM_001042424.3(NSD2):c.793C>T (p.Gln265Ter) rs1560635105
NM_001042424.3(NSD2):c.927G>T (p.Lys309Asn)
NM_012318.3(LETM1):c.1261A>T (p.Met421Leu) rs1711880083
NM_012318.3(LETM1):c.393C>A (p.Asn131Lys) rs145996246
NM_012318.3(LETM1):c.83-19dup rs145853749
NM_133330.3(NSD2):c.1676_1679del rs1553873247
NM_145697.3(NUF2):c.908T>C (p.Leu303Pro)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.